Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

@article{Foster1994CampomelicDA,
  title={Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene},
  author={J. W. Foster and M. Dominguez-Steglich and S. Guioli and C. Kwok and P. Weller and M. Stevanovi{\'c} and J. Weissenbach and S. Mansour and I. Young and P. Goodfellow and J. Brook and A. J. Schafer},
  journal={Nature},
  year={1994},
  volume={372},
  pages={525-530}
}
Induction of testis development in mammals requires the presence of the Y-chromosome gene SPY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development. 
1,444 Citations
Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia
  • J. W. Foster
  • Biology, Medicine
  • Acta paediatrica Japonica : Overseas edition
  • 1996
  • 79
Campomelic syndrome and deletion of SOX9.
  • 41
A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.
  • 88
Early steps in mammalian sex determination.
  • 39
Genetic study of SOX9 in a case of campomelic dysplasia.
  • 34
Genetic control of gonadal differentiation.
  • 20
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 38 REFERENCES
Deletion 9p and sex reversal.
  • 156
  • PDF
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.
  • 44
  • PDF
SOX3 is an X-linked gene related to SRY.
  • 244
...
1
2
3
4
...